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Alpha thalassaemia in an Italian population
Author(s) -
Velati C.,
Sampietro M.,
Biassoni M.,
Cappellini. M. D.,
Wainscoat J. S.,
Higgs D. R.,
Fiorelli G.
Publication year - 1986
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1986.tb07526.x
Subject(s) - globin , cord blood , population , thalassemia , microbiology and biotechnology , hemoglobinopathy , gene , biology , genetics , medicine , hemolytic anemia , immunology , environmental health
S ummary The incidence of α‐thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, α‐globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of α‐thalassaemia caused by a single α‐globin gene deletion (—α). The molecular basis of α‐thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the —α 3.7 deletion type of α‐thalassaemia and nine had nondeletion types of α‐thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.